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About: Charlevoix-Saguenay spastic ataxia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Charlevoix-Saguenay spastic ataxia
described by
id
  • DOID:0050946
created_by
  • lschriml
creation_date
  • 2015-09-18T14:13:49Z
database_cross_reference
  • GARD:4910
  • MESH:C536787
  • OMIM:270550
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
is topic of
is annotatedSource of
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